{"id":"W4376615728","doi":"10.1038/s41431-023-01369-x","title":"Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies","year":2023,"lang":"en","type":"letter","venue":"European Journal of Human Genetics","topic":"Moyamoya disease diagnosis and treatment","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; Université de Montréal; SickKids Foundation; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Phenotype; Genotype; Moyamoya disease; Genotype-phenotype distinction; Genetics; Medicine; Correlation; Biology; Pathology; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006684951,0.0001922504,0.0004509183,0.0002538158,0.00003995551,0.00001312634,0.000147785,0.00005281498,0.00001056793],"category_scores_gemma":[0.0000274882,0.0001330921,0.0001258489,0.0001721949,0.00010051,0.00002069423,0.0000609215,0.0005154397,0.000007042442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003698227,"about_ca_system_score_gemma":0.00003411793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001707625,"about_ca_topic_score_gemma":0.000001770673,"domain_scores_codex":[0.9979625,0.0003718163,0.0008812713,0.000153576,0.0005006387,0.0001302385],"domain_scores_gemma":[0.9984976,0.0000944365,0.0008888873,0.0002539441,0.0002216776,0.00004347082],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0002628616,0.0006417233,0.2136086,0.009889299,0.003730696,0.01213845,0.01961164,0.0004953638,0.0004223798,0.0001319227,0.7234951,0.01557202],"study_design_scores_gemma":[0.002179617,0.002101442,0.9856482,0.001433018,0.00335338,0.00004030124,0.0006381875,0.00001949686,0.00005760334,0.0002963617,0.004046188,0.0001862616],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9688401,0.01751504,0.00001102736,0.01241849,0.0003357098,0.0004593796,0.00002114965,0.000005807415,0.0003932992],"genre_scores_gemma":[0.9533732,0.03047812,0.0008847255,0.01223338,0.002588639,0.000007706592,0.00009870966,0.0000995016,0.000236058],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7720396,"threshold_uncertainty_score":0.5427337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05772632065569753,"score_gpt":0.2848581209079724,"score_spread":0.2271318002522749,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}